(Q24540665)

6 July 2017

title

Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism (English)

1 reference

6 July 2017

3

Heike Olbrich

1 reference

6 July 2017

14

Heymut Omran

1 reference

6 July 2017

12

Andrea Superti-Furga

0 references

Ron A. Wevers

object named as

Ron A Wevers

13

0 references

author name string

Jorn Oliver Sass

1

1 reference

6 July 2017

Verena Mohr

2

1 reference

6 July 2017

Udo Engelke

4

1 reference

6 July 2017

Judit Horvath

5

1 reference

6 July 2017

Manfred Fliegauf

6

1 reference

6 July 2017

Niki Tomas Loges

7

1 reference

6 July 2017

Susanne Schweitzer-Krantz

8

1 reference

6 July 2017

Ralf Moebus

9

1 reference

6 July 2017

Polly Weiler

10

1 reference

6 July 2017

Andreas Kispert

11

1 reference

6 July 2017

language of work or name

English

0 references

publication date

18 January 2006

1 reference

American Journal of Human Genetics

6 July 2017

published in

1 reference

6 July 2017

volume

78

1 reference

6 July 2017

issue

3

1 reference

6 July 2017

page(s)

401-409

1 reference

Protein measurement with the Folin phenol reagent

6 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380284

Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380284

Human aminoacylase-1. Cloning, sequence, and expression analysis of a chromosome 3p21 gene inactivated in small cell lung cancer

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380284

Human aminoacylase-1: cloning, regional assignment to distal chromosome 3p21.1, and identification of a cross-hybridizing sequence on chromosome 18

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380284

Specificity of amino acid acylases

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380284

Catabolism of intracellular N-terminal acetylated proteins: involvement of acylpeptide hydrolase and acylase

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380284

Canavan disease: a review of recent developments

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380284

Nalpha -terminal acetylation of eukaryotic proteins

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380284

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380284

Mapping of aminoacylase-1 and beta-galactosidase-A to homologous regions of human chromosome 3 and mouse chromosome 9 suggests location of additional genes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380284

Bioautographic visualization of aminoacylase-1: Assignment of the structural geneACY-1 to chromosome 3 in man

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380284

Canavan disease. Analysis of the nature of the metabolic lesions responsible for development of the observed clinical symptoms

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380284

N-acetylated metabolites in urine: proton nuclear magnetic resonance spectroscopic study on patients with inborn errors of metabolism

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380284

Long-term results of selective screening for inborn errors of metabolism

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16465618

12 December 2020

inferred from PubMed ID database lookup

The hog intestinal mucosa acylase I: subcellular localization, isolation, kinetic studies and biological function

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16465618

12 December 2020

inferred from PubMed ID database lookup

The distribution of aminoacylase I among mammalian species and localization of the enzyme in porcine kidney

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16465618

12 December 2020

inferred from PubMed ID database lookup

SCHILDER'S ENCEPHALITIS PERIAXIALIS DIFFUSA

1 reference

Crossref

https://api.crossref.org/works/10.1086%2F500563

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1086/500563

1 reference

6 July 2017

1 reference

6 July 2017

1 reference